Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder |
| gptkbp:affects |
sphingomyelin metabolism
|
| gptkbp:causedBy |
mutation in NPC1 gene
mutation in NPC2 gene mutation in SMPD1 gene |
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
gptkb:Albert_Niemann
gptkb:Ludwig_Pick |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Niemann–Pick disease
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Albert_Niemann
gptkb:Ludwig_Pick |
| gptkbp:OMIM |
257200
|
| gptkbp:subspecies |
gptkb:Type_A
gptkb:Type_B gptkb:Type_C gptkb:Type_D |
| gptkbp:symptom |
failure to thrive
hepatosplenomegaly ataxia cherry-red spot in retina neurological deterioration |
| gptkbp:treatment |
gptkb:miglustat_(for_Type_C)
supportive care |
| gptkbp:bfsParent |
gptkb:Ashkenazi_Jews
|
| gptkbp:bfsLayer |
4
|